Varaico: Literature-Extracted Genetic Variants

Gene:GPC3
Variant:p.M282insFs
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GPC3

NM_004484.4:p.M282insFs

Associated Papers

Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.

Vuillaume ML et al.

Human Mutation, 2018

Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.

Vuillaume ML et al.

Human Mutation, 2018

Nonisolated diaphragmatic hernia in Simpson-Golabi-Behmel syndrome.

Chong K et al.

Prenatal Diagnosis, 2018

Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome.

Kehrer C et al.

Prenatal Diagnosis, 2016

Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome.

Ratbi I et al.

The Turkish Journal of Pediatrics, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."